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Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
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Mitochondrial DNA and Disease
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Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
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Germinoma of third Ventricle (Case Record of MGH)
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Extraintestinal Manifestations of Coeliac Disease
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Dopamine-Responsive Dystonia
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
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A Floppy Child with Failure to Thrive
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Mitochondrial Respiratory-Chain Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Prader-Willi and Angelman Syndromes
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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A Clinical Study of Noonan Syndrome
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Kearns-Sayre Syndrome with Hypoparathyroidism
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